PSEN1 c.574_575delinsTG ;(p.A192C)

Variant ID: 14-73659377-GC-TG

NM_000021.3(PSEN1):c.574_575delinsTG;(p.A192C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Conformational Changes in Transmembrane Domain 4 of Presenilin 1 Are Associated with Altered Amyloid-β 42 Production.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Tominaga, Aya A; Cai, Tetsuo T; Takagi-Niidome, Shizuka S; Iwatsubo, Takeshi T; Tomita, Taisuke T
Publication Date: 2016-01-27

Variant appearance in text: PS1: A192C
PubMed Link: 26818522
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure of the catalytic pore of gamma-secretase probed by the accessibility of substituted cysteines.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Sato, Chihiro C; Morohashi, Yuichi Y; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2006-11-15

Variant appearance in text: PS1: A192C
PubMed Link: 17108181
Variant Present in the following documents:
  • Main text
View BVdb publication page